Raelene D Kennedy1, D Dean Potter2, Christopher R Moir2, Mounif El-Youssef3. 1. Division of Pediatric Surgery, Department of Surgery, Mayo Clinic, Rochester, MN 55905. Electronic address: kennedy.raelene@mayo.edu. 2. Division of Pediatric Surgery, Department of Surgery, Mayo Clinic, Rochester, MN 55905. 3. Division of Gastroenterology and Hepatology, Department of Pediatrics, Mayo Clinic, Rochester, MN 55905.
Abstract
PURPOSE: Understanding the natural history of Familial Adenomatous Polyposis (FAP) will guide screening and aid clinical management. METHODS: Patients with FAP, age ≤20years presenting between 1987 and 2011, were reviewed for presentation, diagnosis, extraintestinal manifestations, polyp burden, family history, histology, gene mutation, surgical intervention, and outcome. RESULTS: One hundred sixty-three FAP patients were identified. Diagnosis was made by colonoscopy (69%) or genetic screening (25%) at mean age of 12.5years. Most children (58%) were asymptomatic and diagnosed via screening due to family history. Rectal bleeding was the most common (37%) symptom prompting evaluation. Colon polyps appeared by mean age of 13.4years with >50 polyps at the time of diagnosis in 60%. Cancer was found in 1 colonoscopy biopsy and 5 colectomy specimens. Family history of FAP was known in 85%. 53% had genetic testing, which confirmed APC mutation in 88%. Extraintestinal manifestations included congenital hypertrophy of the retinal pigment epithelium (11.3%), desmoids (10.6%), osteomas (6.7%), epidermal cysts (5.5%), extranumerary teeth (3.7%), papillary thyroid cancer (3.1%), and hepatoblastoma (2.5%). Six patients died secondary to FAP. CONCLUSIONS: Clinical presentation and manifestations in pediatric FAP are variable. We suggest an individualized patient-oriented screening algorithm that allows for earlier screening and appropriate management.
PURPOSE: Understanding the natural history of Familial Adenomatous Polyposis (FAP) will guide screening and aid clinical management. METHODS:Patients with FAP, age ≤20years presenting between 1987 and 2011, were reviewed for presentation, diagnosis, extraintestinal manifestations, polyp burden, family history, histology, gene mutation, surgical intervention, and outcome. RESULTS: One hundred sixty-three FAPpatients were identified. Diagnosis was made by colonoscopy (69%) or genetic screening (25%) at mean age of 12.5years. Most children (58%) were asymptomatic and diagnosed via screening due to family history. Rectal bleeding was the most common (37%) symptom prompting evaluation. Colon polyps appeared by mean age of 13.4years with >50 polyps at the time of diagnosis in 60%. Cancer was found in 1 colonoscopy biopsy and 5 colectomy specimens. Family history of FAP was known in 85%. 53% had genetic testing, which confirmed APC mutation in 88%. Extraintestinal manifestations included congenital hypertrophy of the retinal pigment epithelium (11.3%), desmoids (10.6%), osteomas (6.7%), epidermal cysts (5.5%), extranumerary teeth (3.7%), papillary thyroid cancer (3.1%), and hepatoblastoma (2.5%). Six patients died secondary to FAP. CONCLUSIONS: Clinical presentation and manifestations in pediatric FAP are variable. We suggest an individualized patient-oriented screening algorithm that allows for earlier screening and appropriate management.
Authors: Andrew T Schlussel; Ronald A Gagliano; Susan Seto-Donlon; Faye Eggerding; Timothy Donlon; Jeffrey Berenberg; Henry T Lynch Journal: J Gastrointest Oncol Date: 2014-10
Authors: Patrick M Lynch; Jeffrey S Morris; Sijin Wen; Shailesh M Advani; William Ross; George J Chang; Miguel Rodriguez-Bigas; Gottumukkala S Raju; Luigi Ricciardiello; Takeo Iwama; Benedito M Rossi; Maria Pellise; Elena Stoffel; Paul E Wise; Lucio Bertario; Brian Saunders; Randall Burt; Andrea Belluzzi; Dennis Ahnen; Nagahide Matsubara; Steffen Bülow; Niels Jespersen; Susan K Clark; Steven H Erdman; Arnold J Markowitz; Inge Bernstein; Niels De Haas; Sapna Syngal; Gabriela Moeslein Journal: Gastrointest Endosc Date: 2016-01-06 Impact factor: 9.427